Literature DB >> 23338152

[The genetics of spinocerebellar ataxias].

H Jacobi1, M Minnerop, T Klockgether.   

Abstract

Spinocerebellar ataxias are genetically heterogeneous autosomal dominant ataxia disorders. To date more than 30 different subtypes are known. In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28. Genetic causes range from coding repeat expansions (polyglutamine diseases), to non-coding expansions as well as conventional mutations. In some subtypes the genetic background is currently unknown. Age of onset, typical clinical findings and geographic distribution may help to reach a correct diagnosis; however a definitive diagnosis requires molecular genetic testing.

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Year:  2013        PMID: 23338152     DOI: 10.1007/s00115-012-3637-z

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  14 in total

1.  Long-term effects of coordinative training in degenerative cerebellar disease.

Authors:  Winfried Ilg; Doris Brötz; Susanne Burkard; Martin A Giese; Ludger Schöls; Matthis Synofzik
Journal:  Mov Disord       Date:  2010-10-15       Impact factor: 10.338

Review 2.  RNA-mediated neurodegeneration in repeat expansion disorders.

Authors:  Peter K Todd; Henry L Paulson
Journal:  Ann Neurol       Date:  2010-03       Impact factor: 10.422

Review 3.  Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.

Authors:  Alexandra Durr
Journal:  Lancet Neurol       Date:  2010-09       Impact factor: 44.182

4.  SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.

Authors:  O Riess; L Schöls; H Bottger; D Nolte; A M Vieira-Saecker; C Schimming; F Kreuz; M Macek; A Krebsová; T Klockgether; C Zühlke; F A Laccone
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

5.  Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.

Authors:  M L Moseley; K A Benzow; L J Schut; T D Bird; C M Gomez; P E Barkhaus; K A Blindauer; M Labuda; M Pandolfo; M D Koob; L P Ranum
Journal:  Neurology       Date:  1998-12       Impact factor: 9.910

6.  Comparison of 10-mg doses of 4-aminopyridine and 3,4-diaminopyridine for the treatment of downbeat nystagmus.

Authors:  Roger Kalla; Rainer Spiegel; Jens Claassen; Stanislavs Bardins; Ales Hahn; Erich Schneider; Nicole Rettinger; Stefan Glasauer; Thomas Brandt; Michael Strupp
Journal:  J Neuroophthalmol       Date:  2011-12       Impact factor: 3.042

7.  Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.

Authors:  B P C van de Warrenburg; R J Sinke; C C Verschuuren-Bemelmans; H Scheffer; E R Brunt; P F Ippel; J A Maat-Kievit; D Dooijes; N C Notermans; D Lindhout; N V A M Knoers; H P H Kremer
Journal:  Neurology       Date:  2002-03-12       Impact factor: 9.910

8.  Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.

Authors:  T Schmitz-Hübsch; M Coudert; P Bauer; P Giunti; C Globas; L Baliko; A Filla; C Mariotti; M Rakowicz; P Charles; P Ribai; S Szymanski; J Infante; B P C van de Warrenburg; A Dürr; D Timmann; S Boesch; R Fancellu; R Rola; C Depondt; L Schöls; E Zdienicka; J-S Kang; S Döhlinger; B Kremer; D A Stephenson; B Melegh; M Pandolfo; S di Donato; S Tezenas du Montcel; T Klockgether
Journal:  Neurology       Date:  2008-08-06       Impact factor: 9.910

9.  Treatment of downbeat nystagmus with 3,4-diaminopyridine: a placebo-controlled study.

Authors:  M Strupp; O Schüler; S Krafczyk; K Jahn; F Schautzer; U Büttner; T Brandt
Journal:  Neurology       Date:  2003-07-22       Impact factor: 9.910

10.  Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.

Authors:  Anne Kjersti Erichsen; Jeanette Koht; Asbjørg Stray-Pedersen; Michael Abdelnoor; Chantal M E Tallaksen
Journal:  Brain       Date:  2009-03-31       Impact factor: 13.501

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  1 in total

1.  Role of dynamic and mitochondrial mutations in neurodegenerative diseases with ataxia: lower repeats and LNAs at multiple loci as alternative pathogenesis.

Authors:  Waseem Gul Lone; Subhadra Poornima; Angmuthu Kanikannan Meena; Kaipa Prabhakar Rao; Qurratulain Hasan
Journal:  J Mol Neurosci       Date:  2014-10-12       Impact factor: 3.444

  1 in total

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